Investigating a new genetic cause of immune system disorders in children
Official title: Enhancer Hijacking of the IgH Locus as a Novel Genetic Mechanism of Inborn Errors of Immunity
Funded at Washington University · NIH-10995977 · Data updated 2026-11-12
This study is looking at a condition called specific antibody deficiency (SAD) in children, to find out how certain genetic changes might affect their immune system and help us understand why they struggle to fight off infections.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Washington University NIH-funded |
| Lab location | 1 site (Saint Louis, United States) |
| Project start | August 1, 2024 |
| Project end | June 30, 2026 |
| Funding year | 2024 |
| Award (this year) | $35,482 |
| NIH project number | 1F30AI186244-01 |
| Project ID | NIH-10995977 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are children under 11 years old who have been diagnosed with specific antibody deficiency or related immune disorders.
✕Less likely to help
Patients who do not have specific antibody deficiency or other related inborn errors of immunity may not benefit from this research.
What this research studies
This research focuses on understanding inborn errors of immunity, specifically a condition called specific antibody deficiency (SAD) that affects children's ability to respond to infections. The researchers are examining a family with SAD to identify genetic changes that may contribute to this condition. They will use advanced techniques like whole genome sequencing to uncover genetic duplications that may affect immune cell function. By studying how these genetic changes impact B cells, which are crucial for immune responses, the research aims to provide insights into the underlying mechanisms of SAD.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and potential treatments for children with specific antibody deficiency.
How similar studies have gone: While the specific genetic mechanisms being investigated may be novel, similar research has successfully identified genetic causes of other immune disorders, suggesting potential for impactful findings.
Where this research is happening
-
Washington University
Saint Louis, United States Active
Researchers
- Principal investigator: Tobin, Joshua — Washington University
- Study coordinator: Tobin, Joshua
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page.